Canonical Allele Identifier: CA1943013973
Gene: UROS HGNC NCBI

Linked Data

dbSNP Id: rs1854153241

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125823144C>G , CM000672.2:g.125823144C>G GRCh38
NC_000010.10:g.127511713C>G , CM000672.1:g.127511713C>G GRCh37
NC_000010.9:g.127501703C>G NCBI36
NG_011557.1:g.5125G>C
NG_029095.1:g.4610C>G
NG_011557.2:g.5125G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000713579.1:c.-142G>C ENSP00000518871.1:n.-142G>C
ENST00000368797.10:c.-142G>C MANE Select ENSP00000357787.4:n.-142G>C
ENST00000648119.1:c.-142G>C ENSP00000497494.1:n.-142G>C
ENST00000648427.1:c.-142G>C ENSP00000497909.1:n.-142G>C
ENST00000649536.1:c.-142G>C ENSP00000497817.1:n.-142G>C
ENST00000368778.7:c.-142G>C ENSP00000357767.3:n.-142G>C
ENST00000368797.8:c.-142G>C ENSP00000357787.4:n.-142G>C
ENST00000420761.5:c.-142G>C ENSP00000414833.1:n.-142G>C
NM_000375.2:c.-142G>C NP_000366.1:n.-142G>C
XM_006717960.2:c.-27+63G>C XP_006718023.1:n.-27+63G>C
NM_000375.3:c.-142G>C MANE Select NP_000366.1:n.-142G>C
NM_001324036.1:c.-142G>C NP_001310965.1:n.-142G>C
NM_001324037.1:c.-142G>C NP_001310966.1:n.-142G>C
NM_001324038.1:c.-142G>C NP_001310967.1:n.-142G>C
NM_001324039.1:c.-142G>C NP_001310968.1:n.-142G>C
NR_136675.1:n.125G>C
NR_136676.1:n.125G>C
NR_136677.1:n.125G>C
NR_136678.1:n.125G>C
XM_017016611.2:c.-27+63G>C XP_016872100.2:n.-27+63G>C
XM_024448154.1:c.-27+63G>C XP_024303922.1:n.-27+63G>C
XM_024448155.1:c.-142G>C XP_024303923.1:n.-142G>C
XR_002957010.1:n.38+63G>C
NM_001324036.2:c.-142G>C NP_001310965.1:n.-142G>C
NM_001324037.2:c.-142G>C NP_001310966.1:n.-142G>C
NM_001324038.2:c.-142G>C NP_001310967.1:n.-142G>C
NR_136675.2:n.115G>C
NR_136676.2:n.115G>C
NR_136678.2:n.115G>C
NM_001324039.2:c.-142G>C NP_001310968.1:n.-142G>C
NR_136677.2:n.115G>C